ID AIPL1_HUMAN Reviewed; 384 AA. AC Q9NZN9; D3DTM4; Q6ZZB6; Q8N6A0; Q9H873; Q9NS10; DT 11-JAN-2001, integrated into UniProtKB/Swiss-Prot. DT 19-SEP-2002, sequence version 2. DT 14-DEC-2011, entry version 108. DE RecName: Full=Aryl-hydrocarbon-interacting protein-like 1; GN Name=AIPL1; Synonyms=AIPL2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [GENOMIC RP DNA] (ISOFORM 1), VARIANT HIS-90, AND VARIANT LCA4 ARG-239. RX MEDLINE=20082814; PubMed=10615133; DOI=10.1038/71732; RA Sohocki M.M., Bowne S.J., Sullivan L.S., Blackshaw S., Cepko C.L., RA Payne A.M., Bhattacharya S.S., Khaliq S., Mehdi Q., Birch D.G., RA Harrison W.R., Elder F.F.B., Heckenlively J.R., Daiger S.P.; RT "Mutations in a novel photoreceptor-pineal gene on 17p cause Leber RT congenital amaurosis."; RL Nat. Genet. 24:79-83(2000). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). RC TISSUE=Retinoblastoma; RA Guo J.H., Zhou G.J., Yu L.; RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [4] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). RC TISSUE=Retina; RA Janke B., Preising M., Lorenz B.; RT "Alternative splicing in AIPL1: Implications on function and the RT mutational spectrum."; RL Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). RC TISSUE=Retinoblastoma; RA Kato S.; RT "Full-length cDNA derived from human retinoblastoma cell line Y79."; RL Submitted (MAR-2011) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16625196; DOI=10.1038/nature04689; RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.; RT "DNA sequence of human chromosome 17 and analysis of rearrangement in RT the human lineage."; RL Nature 440:1045-1049(2006). RN [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [8] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Eye; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [9] RP INTERACTION WITH NUB1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, RP MUTAGENESIS OF ARG-53; MET-79; VAL-96; ALA-197; ILE-206; GLY-262 AND RP ARG-302, AND CHARACTERIZATION OF VARIANT LCA4 ARG-239. RC TISSUE=Retina; RX PubMed=12374762; DOI=10.1093/hmg/11.22.2723; RA Akey D.T., Zhu X., Dyer M., Li A., Sorensen A., Blackshaw S., RA Fukuda-Kamitani T., Daiger S.P., Craft C.M., Kamitani T., RA Sohocki M.M.; RT "The inherited blindness associated protein AIPL1 interacts with the RT cell cycle regulator protein NUB1."; RL Hum. Mol. Genet. 11:2723-2733(2002). CC -!- FUNCTION: May be important in protein trafficking and/or protein CC folding and stabilization. CC -!- SUBUNIT: Interacts with NUB1. CC -!- SUBCELLULAR LOCATION: Cytoplasm. Nucleus. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q9NZN9-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9NZN9-2; Sequence=VSP_041507; CC Name=3; Synonyms=AIPL2; CC IsoId=Q9NZN9-3; Sequence=VSP_041508; CC -!- TISSUE SPECIFICITY: Highly expressed in retina. Specifically CC localized to the developing photoreceptor layer and within the CC photoreceptors of the adult retina. CC -!- DISEASE: Defects in AIPL1 are the cause of Leber congenital CC amaurosis type 4 (LCA4) [MIM:604393]. LCA designates a clinically CC and genetically heterogeneous group of childhood retinal CC degenerations, generally inherited in an autosomal recessive CC manner. Affected infants have little or no retinal photoreceptor CC function as tested by electroretinography. LCA represents the most CC common genetic cause of congenital visual impairment in infants CC and children. CC -!- SIMILARITY: Contains 1 PPIase FKBP-type domain. CC -!- SIMILARITY: Contains 3 TPR repeats. CC -!- WEB RESOURCE: Name=Mutations of the AIPL1 gene; Note=Retina CC International's Scientific Newsletter; CC URL="http://www.retina-international.com/sci-news/aipl1mut.htm"; CC -!- WEB RESOURCE: Name=GeneReviews; CC URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AIPL1"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; AF180472; AAF26708.1; -; Genomic_DNA. DR EMBL; AF148864; AAF74023.1; -; mRNA. DR EMBL; AF525970; AAM88405.1; -; mRNA. DR EMBL; AK023970; BAB14744.1; -; mRNA. DR EMBL; AJ633677; CAG17882.1; -; mRNA. DR EMBL; AB593053; BAJ84000.1; -; mRNA. DR EMBL; AB593054; BAJ84001.1; -; mRNA. DR EMBL; AC055872; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471108; EAW90310.1; -; Genomic_DNA. DR EMBL; CH471108; EAW90312.1; -; Genomic_DNA. DR EMBL; CH471108; EAW90313.1; -; Genomic_DNA. DR EMBL; CH471108; EAW90314.1; -; Genomic_DNA. DR EMBL; BC012055; AAH12055.1; -; mRNA. DR IPI; IPI00166974; -. DR IPI; IPI00303131; -. DR IPI; IPI00447756; -. DR RefSeq; NP_001028226.1; NM_001033054.1. DR RefSeq; NP_001028227.1; NM_001033055.1. DR RefSeq; NP_055151.3; NM_014336.3. DR UniGene; Hs.279887; -. DR ProteinModelPortal; Q9NZN9; -. DR SMR; Q9NZN9; 175-310. DR STRING; Q9NZN9; -. DR PhosphoSite; Q9NZN9; -. DR DMDM; 23503042; -. DR PRIDE; Q9NZN9; -. DR Ensembl; ENST00000250087; ENSP00000250087; ENSG00000129221. DR Ensembl; ENST00000381129; ENSP00000370521; ENSG00000129221. DR GeneID; 23746; -. DR KEGG; hsa:23746; -. DR UCSC; uc002gcp.1; human. DR CTD; 23746; -. DR GeneCards; GC17M006268; -. DR H-InvDB; HIX0013476; -. DR HGNC; HGNC:359; AIPL1. DR MIM; 604392; gene. DR MIM; 604393; phenotype. DR neXtProt; NX_Q9NZN9; -. DR Orphanet; 1872; Cone rod dystrophy. DR Orphanet; 65; Congenital Leber amaurosis. DR Orphanet; 791; Retinitis pigmentosa. DR GeneTree; ENSGT00390000001289; -. DR HOGENOM; HBG444299; -. DR HOVERGEN; HBG004198; -. DR InParanoid; Q9NZN9; -. DR OMA; GKDPTEW; -. DR OrthoDB; EOG483D4Z; -. DR PhylomeDB; Q9NZN9; -. DR NextBio; 46671; -. DR ArrayExpress; Q9NZN9; -. DR Bgee; Q9NZN9; -. DR CleanEx; HS_AIPL1; -. DR Genevestigator; Q9NZN9; -. DR GermOnline; ENSG00000129221; Homo sapiens. DR GO; GO:0005737; C:cytoplasm; IDA:MGI. DR GO; GO:0005634; C:nucleus; IDA:MGI. DR GO; GO:0001918; F:farnesylated protein binding; IDA:MGI. DR GO; GO:0051082; F:unfolded protein binding; TAS:ProtInc. DR GO; GO:0018343; P:protein farnesylation; IDA:MGI. DR GO; GO:0006457; P:protein folding; IEA:InterPro. DR GO; GO:0007601; P:visual perception; TAS:ProtInc. DR InterPro; IPR023114; Elongated_TPR_rpt_dom. DR InterPro; IPR001179; PPIase_FKBP_dom. DR InterPro; IPR013026; TPR-contain. DR InterPro; IPR011990; TPR-like_helical. DR Gene3D; G3DSA:1.10.150.160; Elongated_TPR_rpt_dom; 1. DR Gene3D; G3DSA:1.25.40.10; TPR-like_helical; 1. DR Pfam; PF00254; FKBP_C; 1. DR PROSITE; PS50059; FKBP_PPIASE; FALSE_NEG. DR PROSITE; PS50005; TPR; FALSE_NEG. DR PROSITE; PS50293; TPR_REGION; 2. PE 1: Evidence at protein level; KW Alternative splicing; Complete proteome; Cytoplasm; Disease mutation; KW Leber congenital amaurosis; Nucleus; Polymorphism; Reference proteome; KW Repeat; Sensory transduction; TPR repeat; Vision. FT CHAIN 1 384 Aryl-hydrocarbon-interacting protein-like FT 1. FT /FTId=PRO_0000075342. FT DOMAIN 53 145 PPIase FKBP-type. FT REPEAT 178 211 TPR 1. FT REPEAT 230 263 TPR 2. FT REPEAT 264 297 TPR 3. FT VAR_SEQ 33 92 Missing (in isoform 2). FT /FTId=VSP_041507. FT VAR_SEQ 93 155 Missing (in isoform 3). FT /FTId=VSP_041508. FT VARIANT 33 33 V -> A (in dbSNP:rs16955859). FT /FTId=VAR_050626. FT VARIANT 90 90 D -> H (in dbSNP:rs12449580). FT /FTId=VAR_010140. FT VARIANT 134 134 Y -> F (in dbSNP:rs16955851). FT /FTId=VAR_050627. FT VARIANT 239 239 C -> R (in LCA4; no significant effect on FT interaction with NUB1). FT /FTId=VAR_010139. FT MUTAGEN 53 53 R->W: No interaction with NUB1. FT MUTAGEN 79 79 M->T: No interaction with NUB1. FT MUTAGEN 96 96 V->I: No interaction with NUB1. FT MUTAGEN 197 197 A->P: No significant effect on FT interaction with NUB1. FT MUTAGEN 206 206 I->N: No significant effect on FT interaction with NUB1. FT MUTAGEN 262 262 G->S: No interaction with NUB1. FT MUTAGEN 302 302 R->L: No interaction with NUB1. FT CONFLICT 244 244 E -> K (in Ref. 3; CAG17882). FT CONFLICT 306 315 RLLENRMAEK -> EAAGEPHGGE (in Ref. 1; FT AAF26708). SQ SEQUENCE 384 AA; 43903 MW; 47F681A1DC91A82D CRC64; MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL SRSLRQMAQG KDPTEWHVHT CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQVDAPS DYQRETWNLS NHEKMKAVPV LHGEGNRLFK LGRYEEASSK YQEAIICLRN LQTKEKPWEV QWLKLEKMIN TLILNYCQCL LKKEEYYEVL EHTSDILRHH PGIVKAYYVR ARAHAEVWNE AEAKADLQKV LELEPSMQKA VRRELRLLEN RMAEKQEEER LRCRNMLSQG ATQPPAEPPT EPPAQSSTEP PAEPPTAPSA ELSAGPPAEP ATEPPPSPGH SLQH //